Pompe disease can occur between infancy and adulthood, and affects both men and women equally. Approximately one-third of people with Pompe disease are infants (infantile-onset) while the other two thirds are children or adults (late-onset).

What causes Pompe disease?

Pompe disease is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). The job of this enzyme is to break down glycogen, a form of sugar stored in muscle cells throughout the body. In people with Pompe disease, this enzyme is either missing or in short supply.

What are the symptoms?

The symptoms and severity of Pompe disease can vary widely from person to person.

Symptoms associated with the infantile-onset form may include:

feeding and breathing difficulties

an enlarged heart, tongue, and liver

inability to gain weight

a “frog-like” leg position

breathing problems and frequent respiratory infections

Symptoms associated with the late-onset form may include:

chewing and swallowing difficulties

lower back pain

scoliosis

frequent falls

What treatment is available?

Enzyme replacement therapy (ERT) has the ability to treat the underlying cause of the disease. Though ERT is not a cure, providing the missing enzyme may slow the progression of muscle weakness and improve muscle function.

Treatment options also include supportive care, such as:

Respiratory therapies and ventilator assistance

Physical therapy

Occupational therapy

Speak with your health care provider about treatment options that are right for you.